ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.2033A>T (p.Gln678Leu)

gnomAD frequency: 0.00004  dbSNP: rs768492510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676740 SCV001201351 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 678 of the SLC25A12 protein (p.Gln678Leu). This variant is present in population databases (rs768492510, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SLC25A12-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000676740 SCV000802541 uncertain significance not provided 2017-11-08 no assertion criteria provided clinical testing

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